Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A
(
ENST00000695984.1,
ENST00000695981.1,
ENST00000695971.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695976.1,
ENST00000696028.1,
ENST00000696027.1,
ENST00000696029.1 )
ENSG00000285330 c.1534+4580A>G
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000285330 c.1534+4580A>G - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possible interaction effect between LIPC and both CFH rs10033900 and the complement factor I (CFI) variants in terms of risk of AMD.
- Pubmed
- 21139980
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2010
Drugs